Linked Data
ClinVar Variation Id:
227432
dbSNP Id:
rs34254740
ExAC:
5:118837728 T / C
gnomAD v2:
5-118837728-T-C
gnomAD v3:
5-119502033-T-C
gnomAD v4:
5-119502033-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119502033T>C , CM000667.2:g.119502033T>C | GRCh38 |
| NC_000005.9:g.118837728T>C , CM000667.1:g.118837728T>C | GRCh37 |
| NC_000005.8:g.118865627T>C | NCBI36 |
| NG_008182.1:g.54581T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1210-8T>C | ENSP00000426272.2:n.1210-8T>C | |
| ENST00000518349.6:c.454-8T>C | ENSP00000507185.1:n.454-8T>C | |
| ENST00000682445.1:c.*1091-8T>C | ENSP00000508061.1:n.*1091-8T>C | |
| ENST00000682531.1:n.3102-8T>C | ||
| ENST00000682626.1:c.*716-8T>C | ENSP00000507857.1:n.*716-8T>C | |
| ENST00000682996.1:c.1210-8T>C | ENSP00000507792.1:n.1210-8T>C | |
| ENST00000683265.1:n.2996-8T>C | ||
| ENST00000683371.1:c.*1340-8T>C | ENSP00000508376.1:n.*1340-8T>C | |
| ENST00000683372.1:n.3220-8T>C | ||
| ENST00000683390.1:n.2900-8T>C | ||
| ENST00000683549.1:n.2824-8T>C | ||
| ENST00000683936.1:c.*2788-8T>C | ENSP00000507721.1:n.*2788-8T>C | |
| ENST00000683974.1:n.2985-8T>C | ||
| ENST00000683996.1:c.*420-8T>C | ENSP00000507060.1:n.*420-8T>C | |
| ENST00000684131.1:n.2742-8T>C | ||
| ENST00000684160.1:c.*900-8T>C | ENSP00000507821.1:n.*900-8T>C | |
| ENST00000684214.1:c.1210-8T>C | ENSP00000508071.1:n.1210-8T>C | |
| ENST00000414835.7:c.1285-8T>C | ENSP00000411960.3:n.1285-8T>C | |
| ENST00000510025.7:c.1210-8T>C MANE Select | ENSP00000424940.3:n.1210-8T>C | |
| ENST00000643250.1:c.*1082-8T>C | ENSP00000494737.1:n.*1082-8T>C | |
| ENST00000644146.1:c.*2481-8T>C | ENSP00000494808.1:n.*2481-8T>C | |
| ENST00000645099.1:c.769-8T>C | ENSP00000496091.1:n.769-8T>C | |
| ENST00000645702.1:c.*613-8T>C | ENSP00000496432.1:n.*613-8T>C | |
| ENST00000645832.1:c.*1095-8T>C | ENSP00000494316.1:n.*1095-8T>C | |
| ENST00000646058.1:c.1210-8T>C | ENSP00000493579.1:n.1210-8T>C | |
| ENST00000646355.1:c.*1216-8T>C | ENSP00000493801.1:n.*1216-8T>C | |
| ENST00000646554.1:c.*1188-8T>C | ENSP00000494542.1:n.*1188-8T>C | |
| ENST00000647335.1:c.*1177-8T>C | ENSP00000495180.1:n.*1177-8T>C | |
| ENST00000647342.1:c.*1141-8T>C | ENSP00000494992.1:n.*1141-8T>C | |
| ENST00000256216.10:c.1210-8T>C | ENSP00000256216.6:n.1210-8T>C | |
| ENST00000414835.6:c.790-8T>C | ENSP00000411960.2:n.790-8T>C | |
| ENST00000442060.7:c.1210-8T>C | ENSP00000390208.3:n.1210-8T>C | |
| ENST00000504811.5:c.1285-8T>C | ENSP00000420914.1:n.1285-8T>C | |
| ENST00000509514.5:c.424-8T>C | ENSP00000426272.1:n.424-8T>C | |
| ENST00000510025.5:c.1138-8T>C | ENSP00000424940.1:n.1138-8T>C | |
| ENST00000513628.5:c.799-8T>C | ENSP00000425993.1:n.799-8T>C | |
| ENST00000515235.6:n.2963-8T>C | ||
| ENST00000515320.5:c.1156-8T>C | ENSP00000424613.1:n.1156-8T>C | |
| ENST00000518349.5:n.344-8T>C | ||
| ENST00000520216.5:n.471-8T>C | ||
| NM_000414.3:c.1210-8T>C | NP_000405.1:n.1210-8T>C | |
| NM_001199291.2:c.1285-8T>C | NP_001186220.1:n.1285-8T>C | |
| NM_001199292.1:c.1156-8T>C | NP_001186221.1:n.1156-8T>C | |
| NM_001292027.1:c.1138-8T>C | NP_001278956.1:n.1138-8T>C | |
| NM_001292028.1:c.790-8T>C | NP_001278957.1:n.790-8T>C | |
| NM_000414.4:c.1210-8T>C MANE Select | NP_000405.1:n.1210-8T>C | |
| NM_001199291.3:c.1285-8T>C | NP_001186220.1:n.1285-8T>C | |
| NM_001199292.2:c.1156-8T>C | NP_001186221.1:n.1156-8T>C | |
| NM_001292027.2:c.1138-8T>C | NP_001278956.1:n.1138-8T>C | |
| NM_001292028.2:c.790-8T>C | NP_001278957.1:n.790-8T>C | |
| NM_001374497.1:c.1201-8T>C | NP_001361426.1:n.1201-8T>C | |
| NM_001374498.1:c.1210-8T>C | NP_001361427.1:n.1210-8T>C | |
| NM_001374499.1:c.883-8T>C | NP_001361428.1:n.883-8T>C | |
| NM_001374500.1:c.769-8T>C | NP_001361429.1:n.769-8T>C | |
| NM_001374501.1:c.799-8T>C | NP_001361430.1:n.799-8T>C | |
| NM_001374502.1:c.799-8T>C | NP_001361431.1:n.799-8T>C | |
| NM_001374503.1:c.799-8T>C | NP_001361432.1:n.799-8T>C | |
| NR_164653.1:n.1307-8T>C | ||
| NR_164654.1:n.1575-8T>C |